Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome

Wang Yuan ,  Zhang Hanmei ,  Feng Suying

Annals of Dermatology

2021 .01

Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family

Yan Zheng ,  Fen Liu ,  Yao Yang 외 1명

Annals of Dermatology

2017 .01

Mutation Analysis of the Dimer Forming Domain of the Caspase 8 Gene in Oral Submucous Fibrosis and Squamous Cell Carcinomas

Menon ,  Utha ,  a 외 15명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Sujayend ,  a Kulka ,  ni 외 13명

Blood Research

2021 .12

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong ,  Sungwon ,  Lee 외 1명

Journal of genetic medicine

2018 .01

Oral rehabilitation of Papillon?Lefevre syndrome patients by dental implants: a systematic review

Fazele Ata ,  bashi-Moghadam ,  Saede Ata 외 8명

대한구강악안면외과학회지

2020 .08

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Byung Woo Choi ,  Seongho Pa ,  k 외 1명

Dementia and Neurocognitive Disorders(대한치매학회지)

2016 .01

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

최지영 ,  김송이 ,  이상은 외 1명

Yonsei Medical Journal

2018 .01

A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families

Adnan Al Shaikh ,  Bade ,  Shi 외 2명

Annals of Pediatirc Endocrinology & Metabolism

2020 .01

A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene

최고운 ,  임지숙 ,  김명신 외 1명

Journal of Clinical Neurology

2022 .03

Screening for Lynch Syndrome in Young Colorectal Cancer Patients from Saudi Arabia Using Microsatellite Instability as the Initial Test

Alqahtani ,  Masood ,  G 외 23명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .01

Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Muhammad Usman Rashid ,  Faiz Ali Khan ,  Noo 외 3명

Cancer Research and Treatment

2019 .01

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Seung Heo ,  Ja-Hyun Jang ,  Jeesuk Yu

Annals of Pediatirc Endocrinology & Metabolism

2019 .01

Association between Mutation and Expression of TP53 as a Potential Prognostic Marker of Triple-Negative Breast Cancer

김지연 ,  박경희 ,  정혜현 외 11명

Cancer Research and Treatment

2016 .01

Molecular Screening for P53 Mutations among Tobacco Smokers in a Surveyof Awareness of Links between Tobacco, Alcohol Use and Cancer in Saudi Arabia

Alshamma ,  i ,  Fawaz D

Asian Pacific journal of cancer prevention : APJCP

2015 .01

The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome

Ma ,  cin R. Lene ,  Ani 외 13명

Cancer Research and Treatment

2017 .01

Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer

황혜정 ,  남수경 ,  박현진 외 6명

Journal of Pathology and Translational Medicine

2020 .01

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

조민정 ,  권순성 ,  고아라 외 8명

Journal of Clinical Neurology

2018 .01